Clinical and research tests for C1853733 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel BloodGenetics Spain	11	11	C Sequence analysis of the entire coding region
Hyperferritinemia Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	15	15	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
HemeZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	107	96	C Sequence analysis of the entire coding region
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	221	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC40A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Iron Related Disorders Panel Invitae United States	39	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hemochromatosis, type 4, 606069, Autosomal dominant; HFE4 (Hemochromatosis type 4) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hemochromatosis, type 4, 606069, Autosomal dominant; HFE4 (Hemochromatosis type 4) (SLC40A1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WES iron disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	20	46	E Sequence analysis of select exons
SLC40A1 - hemochromatosis, type 4 (ferroportin) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
panel hemochromatosis (CP, HFE, HFE2, HAMP, TFR2, SLC40A1, BMP6, FTL, IRE-FTH1) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	8	9	C Sequence analysis of the entire coding region
Hereditary Hemochromatosis via the SLC40A1 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Hemochromatosis Panel PreventionGenetics, part of Exact Sciences United States	7	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Hemochromatosis Panel Invitae United States	11	6	D Deletion/duplication analysis
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Hereditary hemochromatosis panel. Panel NGS genes: HAMP, HFE, HJV, SLC40A1, TFR2. Genologica Medica Spain	9	4	C Sequence analysis of the entire coding region
Hemochromatosis, type 4 Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC40A1 Sequence Analysis Baylor Genetics United States	1	1	E Sequence analysis of select exons

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